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5,225 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, High Pitched Voice, Mental Retardation

  • Seckel Syndrome

    ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com]

  • Congenital Muscular Dystrophy

    CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[ncbi.nlm.nih.gov] retardation.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Dubowitz Syndrome

    Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] , short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci DUBOWITZ SYNDROME edit English Dubowitz syndrome Human[wikidata.org] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[symptoma.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Bloom Syndrome

    Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] The patient had most of the signs of BS along with some atypical manifestations: absence of telangiectases, obesity, and moderate mental retardation.[ncbi.nlm.nih.gov] People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Pfeiffer-Palm-Teller Syndrome

    Voice Annotation Sufficiency: ?[monarchinitiative.org] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Short stature[rarediseases.info.nih.gov] retardation facial dysmorphism Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital Pterygium syndrome multiple[bioreference.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mulibrey Nanism Syndrome

    pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[checkorphan.org] Mental retardation, X-linked, 21/34; 300143; IL1RAPL1 Mental retardation, X-linked; 300495; NLGN4 Mental retardation, X-linked, FRAXE type; 309548; AFF2 Mental retardation[howlingpixel.com] The patient had short stature and high-pitched voice with the same characteristic craniofacial features as his sibling. Psychomotor development was normal.[academic.oup.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com] Individuals affected by this disease present at an adult height of less than 100 cm, a post-pubertal head circumference of 40 cm or less, mild mental retardation, an outgoing[ncbi.nlm.nih.gov] MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Laron Syndrome with Immunodeficiency

    Patients may have a high-pitched voice and present truncal obesity.[symptoma.com] , X-Linked 46 1 Mental Retardation, X-linked 49 5 Mental Retardation, X-Linked 58 2 Mental Retardation, X-linked 61 1 Mental Retardation, X-Linked 63 4 Mental Retardation,[preventiongenetics.com] The sibs showed the typical clinical features of Laron syndrome: they were very short and obese, had acromicria, small genitalia (in the boys), and a high-pitched voice.[cags.org.ae]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • BOD Syndrome

    The older sister additionally had a high-pitched voice and eczema on the face and limbs.[ncbi.nlm.nih.gov] retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Symphalangism affecting the phalanges of the hand Fused finger[rarediseases.info.nih.gov] As noted in connection with the Coffin-Siris syndrome (CSS; {135900}), the condition reported by {3:Senior (1971)} resembles that disorder except that mental retardation is[bio2rdf.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Wiedemann-Rautenstrauch Syndrome

    Infants may have dysphonic, horse cry and older children may have an unusual high-pitched voice.[rarediseases.org] retardation and dysmorphism.[en.wikipedia.org] […] physical traits including: A bigger head Large eyes A small lower jaw A thin nose with a "beaked" tip Ears that stick out Veins you can see Slow and abnormal tooth growth A high-pitched[webmd.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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